Canonical Allele Identifier: CA405957305

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41197974G>C (hg19) ; chr19:g.40692069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692069G>C , CM000681.2:g.40692069G>C	GRCh38
NC_000019.9:g.41197974G>C , CM000681.1:g.41197974G>C	GRCh37
NC_000019.8:g.45889814G>C	NCBI36
NG_027800.1:g.29817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1601C>G MANE Select	ENSP00000315118.3:p.Pro534Arg
ENST00000593724.2:n.3424C>G
ENST00000594490.6:c.1523C>G	ENSP00000471310.2:p.Pro508Arg
ENST00000594720.6:c.1601C>G	ENSP00000470876.2:p.Pro534Arg
ENST00000596455.6:n.1893C>G
ENST00000601967.6:c.1601C>G	ENSP00000470916.2:p.Pro534Arg
ENST00000676555.1:c.*1026C>G	ENSP00000503387.1:n.*1026C>G
ENST00000676578.1:c.*1343C>G	ENSP00000504076.1:n.*1343C>G
ENST00000676960.1:n.1726C>G
ENST00000676962.1:n.1880C>G
ENST00000677018.1:c.1601C>G	ENSP00000503480.1:p.Pro534Arg
ENST00000677039.1:n.3804C>G
ENST00000677399.1:n.2043C>G
ENST00000677496.1:c.1274C>G	ENSP00000504773.1:p.Pro425Arg
ENST00000677517.1:c.1274C>G	ENSP00000503519.1:p.Pro425Arg
ENST00000677633.1:c.*1024C>G	ENSP00000503645.1:n.*1024C>G
ENST00000677800.1:c.*4705C>G	ENSP00000503794.1:n.*4705C>G
ENST00000678057.1:c.*1165C>G	ENSP00000503762.1:n.*1165C>G
ENST00000678119.1:n.1795C>G
ENST00000678166.1:n.1744C>G
ENST00000678312.1:n.1938C>G
ENST00000678316.1:c.*1024C>G	ENSP00000504112.1:n.*1024C>G
ENST00000678371.1:n.2051C>G
ENST00000678404.1:c.1601C>G	ENSP00000503944.1:p.Pro534Arg
ENST00000678419.1:c.1601C>G	ENSP00000504085.1:p.Pro534Arg
ENST00000678433.1:n.1957C>G
ENST00000678467.1:c.1601C>G	ENSP00000504072.1:p.Pro534Arg
ENST00000678569.1:c.*586C>G	ENSP00000504261.1:n.*586C>G
ENST00000678961.1:n.1956C>G
ENST00000679002.1:n.1780C>G
ENST00000679012.1:c.1157C>G	ENSP00000504446.1:p.Pro386Arg
ENST00000679070.1:c.*1020C>G	ENSP00000503759.1:n.*1020C>G
ENST00000679130.1:c.1601C>G	ENSP00000504845.1:p.Pro534Arg
ENST00000679315.1:c.*1431C>G	ENSP00000503065.1:n.*1431C>G
ENST00000243583.10:c.1478C>G	ENSP00000243583.5:p.Pro493Arg
ENST00000324464.7:c.1601C>G	ENSP00000315118.3:p.Pro534Arg
ENST00000593724.1:n.1716C>G
NM_001142555.2:c.1478C>G	NP_001136027.1:p.Pro493Arg
NM_024876.3:c.1601C>G	NP_079152.3:p.Pro534Arg
XM_005259270.3:c.1763C>G	XP_005259327.2:p.Pro588Arg
XM_005259271.3:c.1601C>G	XP_005259328.1:p.Pro534Arg
XM_005259272.3:c.1601C>G	XP_005259329.1:p.Pro534Arg
XM_005259273.3:c.1601C>G	XP_005259330.1:p.Pro534Arg
XM_006723392.2:c.1601C>G	XP_006723455.1:p.Pro534Arg
XM_006723393.2:c.1601C>G	XP_006723456.1:p.Pro534Arg
XM_011527334.1:c.1601C>G	XP_011525636.1:p.Pro534Arg
XM_011527335.1:c.1460C>G	XP_011525637.1:p.Pro487Arg
XM_011527336.1:c.1631C>G	XP_011525638.1:p.Pro544Arg
XM_011527337.1:c.1601C>G	XP_011525639.1:p.Pro534Arg
XM_011527338.1:c.1601C>G	XP_011525640.1:p.Pro534Arg
NM_024876.4:c.1601C>G MANE Select	NP_079152.3:p.Pro534Arg
NM_001142555.3:c.1478C>G	NP_001136027.1:p.Pro493Arg